气相色谱质谱联用仪检测吉林省长春市尿液中有机酸结果分析
Gas chromatography-mass spectrometry for urine organic compounds in Changchun,Jilin Province analysis of acid testing results
高洪宇 1徐春生 1周婷婷 1刘明珠1
作者信息
- 1. 吉林金域医学检验所有限公司,长春 130000
- 折叠
摘要
目的 通过分析吉林省长春市的尿液有机酸的原始检测结果,初步探讨尿液有机酸检测项目的相关遗传代谢疾病在吉林省长春市的发病情况以及检测数据分析.方法 采用气相色谱质谱联用仪GC-MS对吉林省长春市2019 年 1 月份到 2023 年 5 月份送检吉林金域医学有限公司尿液有机酸检测项目的结果进行分析.结果 初筛阳性疾病 83 例,阳性率为3.93%.其中甲基丙二酸血症最多,一共有43 例,阳性率为 51.81%,高苯丙氨酸血症一共有10例,阳性率为12.05%,戊二酸血症-Ⅰ型一共有6例,阳性率为7.23%,Citrin蛋白缺陷症一共有5例,阳性率为6.02%,丙酸血症一共有5 例,阳性率为6.02%,枫糖尿病一共有 4 例,阳性率为 4.82%,其他疾病合计为 10 例,阳性率合计为 12.05%.结论 有机酸代谢病又称有机酸尿症,是遗传代谢性疾病中最常见的病种.尿液有机酸筛查是出生后预防和治疗某些遗传代谢性疾病的有效方法,其中甲基丙二酸血症是有机酸代谢异常中最常见的遗传代谢疾病,为提高患儿的生存率与生活质量,人们必须提高认识,早发现,早诊断,早治疗.
Abstract
Objective By analyzing the original detection results of urine organic acids in Changchun,Jilin Province,this study aims to explore the incidence of genetic metabolic diseases related to urine organic acid detection projects in Changchun,Jilin Province,and analyze the detection data.Methods Gas chromatography-mass spectrometry(GC-MS)was used to analyze the results of the urine organic acid detection project submitted by Jilin Jincheng Medical Co.,Ltd.in Changchun,Jilin Province from January 2019 to May 2023.Results there were 83 cases of positive diseases in the initial screening,with a positive rate of 3.93%.Among them,there were 43 cases of methylmalonic acidemia with a positive rate of 51.81%,10 cases of hyperphenylalaninemia with a positive rate of 12.05%,6 cases of glutaric acidemia type 1 with a positive rate of 7.23%,5 cases of Citrin protein deficiency with a positive rate of 6.02%,5 cases of propionaemia with a positive rate of 6.02%,4 cases of maple diabetes with a positive rate of 4.82%,and 10 cases of other diseases with a positive rate of 12.05%.Conclusion Organic acid metabolism disease,also known as organic aciduria,is the most common genetic metabolic disease.Urine organic acid screening is an effective method for preventing and treating certain genetic metabolic diseases after birth,among which methylmalonic acidemia is the most common genetic metabolic disease with abnormal organic acid metabolism.In order to improve the survival rate and quality of life of children,people must raise awareness,detect,diagnose and treat them early.
关键词
尿液有机酸/气相色谱质谱联用仪/吉林省长春市Key words
urine organic acids/gas chromatography-mass spectrometry/Changchun Jilin Province引用本文复制引用
出版年
2024
NETL
NSTL
万方数据